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- [44] β-catenin (CTNNB1) S33C Mutation in Ovarian Microcystic Stromal TumorsAMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2011, 35 (10) : 1429 - 1440Maeda, Daichi论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanShibahara, Junji论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanSakuma, Takahiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Rosai Hosp, Dept Diagnost Pathol, Sakai, Osaka, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanIsobe, Masanori论文数: 0 引用数: 0 h-index: 0机构: Osaka Rosai Hosp, Dept Obstet & Gynecol, Sakai, Osaka, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanTeshima, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Doai Mem Hosp, Dept Pathol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanMori, Masaya论文数: 0 引用数: 0 h-index: 0机构: Mitsui Mem Hosp, Dept Pathol, Tokyo 101, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan论文数: 引用数: h-index:机构:Nakagawa, Shunsuke论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Fac Med, Dept Obstet & Gynecol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanTaketani, Yuji论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Fac Med, Dept Obstet & Gynecol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanIshikawa, Shumpei论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, JapanFukayama, Masashi论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo 1130033, Japan
- [45] Functional analysis of a novel pathogenic mutation affecting the gating glutamate of the 2Cl-/H+ exchanger ClC-5 in patients with Dent's disease type 1FASEB JOURNAL, 2017, 31Bignon, Yohan论文数: 0 引用数: 0 h-index: 0机构: UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, FranceLahuna, Olivier论文数: 0 引用数: 0 h-index: 0机构: Cochin Inst, Funct Pharmacol & Membrane Receptors Physiopathol, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, FranceFrachon, Nadia论文数: 0 引用数: 0 h-index: 0机构: UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, FranceTeulon, Jacques论文数: 0 引用数: 0 h-index: 0机构: UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, FranceVargas-Poussou, Rosa论文数: 0 引用数: 0 h-index: 0机构: Georges Pompidou European Hosp, Human Genet Dept, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, FranceLourdel, Stephane论文数: 0 引用数: 0 h-index: 0机构: UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, France UPMC Cordeliers Res Ctr, Team Metab & Renal Physiol, Paris, France
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- [48] Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate ReuptakeARCHIVES OF NEUROLOGY, 2009, 66 (01) : 97 - 101de Vries, Boukje论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsMamsa, Hafsa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Sch Med, Los Angeles, CA 90024 USA Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsStam, Anine H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsWan, Jijun论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Sch Med, Los Angeles, CA 90024 USA Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsBakker, Stef L. M.论文数: 0 引用数: 0 h-index: 0机构: St Franciscus Gen Hosp, Dept Neurol, Rotterdam, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsVanmolkot, Kaate R. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsHaan, Joost论文数: 0 引用数: 0 h-index: 0机构: Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsTerwindt, Gisela M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsBoon, Elles M. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsHoward, Bruce D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Biol Chem, Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Dept Surg, Sch Med, Los Angeles, CA 90024 USA Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsFrants, Rune R.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsBaloh, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Sch Med, Los Angeles, CA 90024 USA Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsFerrari, Michel D.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, NetherlandsJen, Joanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Sch Med, Los Angeles, CA 90024 USA Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlandsvan den Maagdenberg, Arn M. J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands
- [49] A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency familyTHROMBOSIS RESEARCH, 2016, 148 : 125 - 127Zhang, Yang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaYang, Hang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaChen, Qianlong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaYu, Jinxing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaChen, Xi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaLiu, Sheng论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, Ctr Adult Cardiac Surg, Fuwai Hosp, Natl Ctr Cardiovasc Dis, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaGao, Ge论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, Ctr Adult Cardiac Surg, Fuwai Hosp, Natl Ctr Cardiovasc Dis, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaSong, Yunhu论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, Ctr Adult Cardiac Surg, Fuwai Hosp, Natl Ctr Cardiovasc Dis, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R ChinaZhou, Zhou论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China Peking Union Med Coll, Beijing 100037, Peoples R China Chinese Acad Med Sci, State Key Lab Cardiovasc Dis, Beijing Key Lab Mol Diagnost Cardiovasc Dis, Diagnost Lab Serv,Fuwai Hosp,Natl Ctr Cardiovasc, Beijing 100037, Peoples R China
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